(Q48238114)

English

Aspartylglucosaminuria: unusual neonatal presentation in Qatari twins with a novel aspartylglucosaminidase gene mutation and 3 new cases in a Turkish family.

scientific article published on 26 December 2012

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

9 February 2018

http://europepmc.org/abstract/MED/23271757

Aspartylglucosaminuria: unusual neonatal presentation in Qatari twins with a novel aspartylglucosaminidase gene mutation and 3 new cases in a Turkish family. (English)

1 reference

Europe PubMed Central

PubMed publication ID

9 February 2018

http://europepmc.org/abstract/MED/23271757

aspartylglucosaminuria

1 reference

based on heuristic

inferred from title

Tawfeg Ben-Omran

5

object named as

Tawfeg Ben-Omran

1 reference

Europe PubMed Central

PubMed publication ID

9 February 2018

http://europepmc.org/abstract/MED/23271757

author name string

Thomas Opladen

1

1 reference

Europe PubMed Central

PubMed publication ID

9 February 2018

http://europepmc.org/abstract/MED/23271757

Friedrich Ebinger

2

1 reference

Europe PubMed Central

PubMed publication ID

9 February 2018

http://europepmc.org/abstract/MED/23271757

Johannes Zschocke

3

1 reference

Europe PubMed Central

PubMed publication ID

9 February 2018

http://europepmc.org/abstract/MED/23271757

Devjani Sengupta

4

1 reference

Europe PubMed Central

PubMed publication ID

9 February 2018

http://europepmc.org/abstract/MED/23271757

Noora Shahbeck

6

1 reference

Europe PubMed Central

PubMed publication ID

9 February 2018

http://europepmc.org/abstract/MED/23271757

Ute Moog

7

1 reference

Europe PubMed Central

PubMed publication ID

9 February 2018

http://europepmc.org/abstract/MED/23271757

Christine Fischer

8

1 reference

Europe PubMed Central

PubMed publication ID

9 February 2018

http://europepmc.org/abstract/MED/23271757

Friederike Bürger

9

1 reference

Europe PubMed Central

PubMed publication ID

9 February 2018

http://europepmc.org/abstract/MED/23271757

Dorothea Haas

10

1 reference

Europe PubMed Central

PubMed publication ID

9 February 2018

http://europepmc.org/abstract/MED/23271757

Peter Ruef

11

1 reference

Europe PubMed Central

PubMed publication ID

9 February 2018

http://europepmc.org/abstract/MED/23271757

Inga Harting

12

1 reference

Europe PubMed Central

PubMed publication ID

9 February 2018

http://europepmc.org/abstract/MED/23271757

Hilal Al-Rifai

13

1 reference

Europe PubMed Central

PubMed publication ID

9 February 2018

http://europepmc.org/abstract/MED/23271757

Georg F Hoffmann

14

1 reference

Europe PubMed Central

PubMed publication ID

9 February 2018

http://europepmc.org/abstract/MED/23271757

publication date

26 December 2012

1 reference

Europe PubMed Central

PubMed publication ID

9 February 2018

http://europepmc.org/abstract/MED/23271757

Journal of Child Neurology

1 reference

Europe PubMed Central

PubMed publication ID

9 February 2018

http://europepmc.org/abstract/MED/23271757

29

1 reference

Europe PubMed Central

PubMed publication ID

9 February 2018

http://europepmc.org/abstract/MED/23271757

1

1 reference

Europe PubMed Central

PubMed publication ID

9 February 2018

http://europepmc.org/abstract/MED/23271757

36-42

1 reference

Europe PubMed Central

PubMed publication ID

9 February 2018

http://europepmc.org/abstract/MED/23271757

Chromosomal localization of the human glycoasparaginase gene to 4q32?q33

1 reference

https://api.crossref.org/works/10.1177%2F0883073812469049

21 January 2018

In vitro mutagenesis helps to unravel the biological consequences of aspartylglucosaminuria mutation

1 reference

https://api.crossref.org/works/10.1177%2F0883073812469049

21 January 2018

Massive accumulation of Man2GlcNAc2-Asn in nonneuronal tissues of glycosylasparaginase-deficient mice and its removal by enzyme replacement therapy

1 reference

https://api.crossref.org/works/10.1177%2F0883073812469049

21 January 2018

High prevalence of aspartylglycosaminuria among school-age children in eastern Finland

1 reference

https://api.crossref.org/works/10.1177%2F0883073812469049

21 January 2018

Aspartylglucosaminuria in a Puerto Rican family: additional features of a panethnic disorder.

1 reference

https://api.crossref.org/works/10.1177%2F0883073812469049

21 January 2018

Aspartylglycosaminuria in an Italian family: clinical and biochemical characteristics.

1 reference

https://api.crossref.org/works/10.1177%2F0883073812469049

21 January 2018

Aspartylglucosaminuria in the United States

1 reference

https://api.crossref.org/works/10.1177%2F0883073812469049

21 January 2018

Aspartylglucosaminuria in northern Norway: a molecular and genealogical study

1 reference

https://api.crossref.org/works/10.1177%2F0883073812469049

21 January 2018

Angiokeratoma corporis diffusum in a Spanish patient with aspartylglucosaminuria

1 reference

https://api.crossref.org/works/10.1177%2F0883073812469049

21 January 2018

Aspartylglucosaminuria: radiologic course of the disease with histopathologic correlation

1 reference

https://api.crossref.org/works/10.1177%2F0883073812469049

21 January 2018

Bilateral pulvinar signal intensity decrease on T2-weighted images in patients with aspartylglucosaminuria

1 reference

https://api.crossref.org/works/10.1177%2F0883073812469049

21 January 2018

Five-year follow-up of two siblings with aspartylglucosaminuria undergoing allogeneic stem-cell transplantation from unrelated donors

1 reference

https://api.crossref.org/works/10.1177%2F0883073812469049

21 January 2018

Early initiation of enzyme replacement therapy improves metabolic correction in the brain tissue of aspartylglycosaminuria mice

1 reference

https://api.crossref.org/works/10.1177%2F0883073812469049

21 January 2018

Mucopolysaccharidosis VI.

1 reference

https://api.crossref.org/works/10.1177%2F0883073812469049

21 January 2018

Alpha-mannosidosis

1 reference

https://api.crossref.org/works/10.1177%2F0883073812469049

21 January 2018

Cerebral dysgenesis and lactic acidemia: an MRI/MRS phenotype associated with pyruvate dehydrogenase deficiency

1 reference

https://api.crossref.org/works/10.1177%2F0883073812469049

21 January 2018

Co-existence of lysosomal storage diseases in a consanguineous family

1 reference

https://api.crossref.org/works/10.1177%2F0883073812469049

21 January 2018

Identifiers

10.1177/0883073812469049

1 reference

Europe PubMed Central

PubMed publication ID

9 February 2018

http://europepmc.org/abstract/MED/23271757

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

9 February 2018

http://europepmc.org/abstract/MED/23271757

ResearchGate publication ID

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